Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154996971_154996973del , CM000685.2:g.154996971_154996973del | GRCh38 |
| NC_000023.10:g.154225246_154225248del , CM000685.1:g.154225246_154225248del | GRCh37 |
| NC_000023.9:g.153878440_153878442del | NCBI36 |
| NG_011403.1:g.30752_30754del | |
| NG_011403.2:g.30752_30754del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.388+1_388+3del | ||
| ENST00000647125.1:c.*174+1_*174+3del | ||
| ENST00000360256.8:c.388+1_388+3del | ||
| ENST00000423959.5:c.283+1_283+3del | ||
| ENST00000453950.1:c.370+1_370+3del | ||
| NM_000132.3:c.388+1_388+3del | ||
| XM_011531126.1:c.283+1_283+3del | ||
| NM_000132.4:c.388+1_388+3del |